Incidental Mutation 'R6233:Dnase1l1'
ID |
504797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnase1l1
|
Ensembl Gene |
ENSMUSG00000019088 |
Gene Name |
deoxyribonuclease 1-like 1 |
Synonyms |
2310005K03Rik, G4.8, Dnase1ll, Dnl1ll |
MMRRC Submission |
044361-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6233 (G1)
|
Quality Score |
221.999 |
Status
|
Validated
|
Chromosome |
X |
Chromosomal Location |
73316823-73325939 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 73320644 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008826]
[ENSMUST00000019232]
[ENSMUST00000074085]
[ENSMUST00000075821]
[ENSMUST00000114189]
[ENSMUST00000119361]
[ENSMUST00000151702]
[ENSMUST00000135690]
|
AlphaFold |
Q9D7J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008826
|
SMART Domains |
Protein: ENSMUSP00000008826 Gene: ENSMUSG00000008682
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000019232
|
SMART Domains |
Protein: ENSMUSP00000019232 Gene: ENSMUSG00000019088
Domain | Start | End | E-Value | Type |
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074085
|
SMART Domains |
Protein: ENSMUSP00000082055 Gene: ENSMUSG00000008682
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L16
|
5 |
167 |
1.1e-34 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000075821
|
SMART Domains |
Protein: ENSMUSP00000075218 Gene: ENSMUSG00000019088
Domain | Start | End | E-Value | Type |
DNaseIc
|
21 |
289 |
3.93e-149 |
SMART |
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083047
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114189
|
SMART Domains |
Protein: ENSMUSP00000109827 Gene: ENSMUSG00000019088
Domain | Start | End | E-Value | Type |
Blast:DNaseIc
|
21 |
70 |
5e-22 |
BLAST |
SCOP:d2dnja_
|
39 |
79 |
2e-4 |
SMART |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119361
|
SMART Domains |
Protein: ENSMUSP00000113515 Gene: ENSMUSG00000019088
Domain | Start | End | E-Value | Type |
Blast:DNaseIc
|
21 |
64 |
2e-22 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135012
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142142
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151702
|
SMART Domains |
Protein: ENSMUSP00000115919 Gene: ENSMUSG00000008682
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L16
|
5 |
167 |
1.5e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135690
|
SMART Domains |
Protein: ENSMUSP00000119500 Gene: ENSMUSG00000008682
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L16
|
5 |
150 |
1.2e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184075
|
Meta Mutation Damage Score |
0.9711 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (79/81) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015] PHENOTYPE: Female mice homozygous for an inactivating mutation of this gene exhibit poor motor coordination on the rotarod even on days 4 and 5 of a 5-day test. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
A |
2: 58,338,411 (GRCm39) |
N437I |
probably benign |
Het |
Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,599,005 (GRCm39) |
T57S |
possibly damaging |
Het |
Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
Ankrd9 |
A |
T |
12: 110,943,554 (GRCm39) |
I160N |
probably damaging |
Het |
Aoc1l2 |
A |
G |
6: 48,907,899 (GRCm39) |
T300A |
probably benign |
Het |
Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
Clmn |
A |
C |
12: 104,751,714 (GRCm39) |
L247R |
probably damaging |
Het |
Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
Dhrs7l |
T |
C |
12: 72,666,341 (GRCm39) |
Y110C |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
Dmkn |
C |
A |
7: 30,479,104 (GRCm39) |
A280E |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,098,852 (GRCm39) |
G776R |
possibly damaging |
Het |
Eefsec |
A |
G |
6: 88,335,526 (GRCm39) |
|
probably null |
Het |
Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
Eny2 |
A |
G |
15: 44,297,056 (GRCm39) |
|
probably null |
Het |
F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
Fbxo28 |
A |
G |
1: 182,169,073 (GRCm39) |
S22P |
unknown |
Het |
Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
Fcrlb |
A |
G |
1: 170,736,458 (GRCm39) |
I106T |
probably damaging |
Het |
Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
Gna12 |
A |
G |
5: 140,746,447 (GRCm39) |
F333L |
possibly damaging |
Het |
Gria2 |
A |
G |
3: 80,614,510 (GRCm39) |
I510T |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
Il1rap |
A |
G |
16: 26,529,256 (GRCm39) |
T310A |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
Kcnk4 |
T |
C |
19: 6,905,697 (GRCm39) |
N90S |
probably benign |
Het |
Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
Lamc1 |
A |
T |
1: 153,099,412 (GRCm39) |
D1520E |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,504,214 (GRCm39) |
L2585I |
probably damaging |
Het |
Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
Myh7b |
C |
T |
2: 155,473,719 (GRCm39) |
A1584V |
possibly damaging |
Het |
Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,104 (GRCm39) |
Y257H |
probably damaging |
Het |
Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
Or6c209 |
T |
C |
10: 129,483,165 (GRCm39) |
M56T |
probably benign |
Het |
Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
Pilra |
T |
C |
5: 137,821,763 (GRCm39) |
T291A |
possibly damaging |
Het |
Ppp1r9a |
G |
T |
6: 5,077,610 (GRCm39) |
D630Y |
probably damaging |
Het |
Pros1 |
A |
C |
16: 62,719,284 (GRCm39) |
Q102P |
possibly damaging |
Het |
Rad21l |
T |
C |
2: 151,495,462 (GRCm39) |
D407G |
probably benign |
Het |
Rapgef5 |
G |
A |
12: 117,703,453 (GRCm39) |
|
probably null |
Het |
Rbm25 |
G |
A |
12: 83,706,200 (GRCm39) |
A182T |
probably benign |
Het |
Rnf13 |
A |
G |
3: 57,740,391 (GRCm39) |
E236G |
possibly damaging |
Het |
Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,069,984 (GRCm39) |
I119F |
probably damaging |
Het |
Shoc1 |
T |
A |
4: 59,076,245 (GRCm39) |
D566V |
possibly damaging |
Het |
Slc12a7 |
T |
C |
13: 73,953,590 (GRCm39) |
S767P |
possibly damaging |
Het |
Slc23a1 |
A |
G |
18: 35,757,497 (GRCm39) |
I258T |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,929,456 (GRCm39) |
R338H |
probably benign |
Het |
Sufu |
G |
A |
19: 46,464,071 (GRCm39) |
G428R |
probably damaging |
Het |
Sult2a1 |
T |
C |
7: 13,566,600 (GRCm39) |
D125G |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
Tenm3 |
A |
C |
8: 48,870,094 (GRCm39) |
V233G |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
Tspan11 |
T |
C |
6: 127,915,227 (GRCm39) |
Y114H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
Usp44 |
G |
A |
10: 93,686,202 (GRCm39) |
C539Y |
probably damaging |
Het |
Vmn2r73 |
G |
A |
7: 85,519,099 (GRCm39) |
P508S |
probably benign |
Het |
Zfp831 |
A |
G |
2: 174,488,490 (GRCm39) |
D1055G |
possibly damaging |
Het |
Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Dnase1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4691:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4752:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4753:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4814:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4815:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4846:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4861:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4862:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4872:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4873:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4875:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4978:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4979:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4980:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4981:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4982:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4983:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5039:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5084:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5085:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5086:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5087:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5106:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5107:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5108:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5109:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5137:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5171:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5266:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5296:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5330:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5417:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5418:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5419:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5448:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5450:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5466:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R5467:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6126:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6128:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6129:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6130:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6232:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6234:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6242:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6305:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6306:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6329:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6343:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6344:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6396:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6397:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6449:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6450:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6585:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6586:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6646:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6679:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6681:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6845:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R6847:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
R8526:Dnase1l1
|
UTSW |
X |
73,320,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATTGGTACCAGAGTGGCTG -3'
(R):5'- TTGGAGGGTTCCTGATGCAC -3'
Sequencing Primer
(F):5'- TACCAGAGTGGCTGCAGAC -3'
(R):5'- GGTTCCTGATGCACACATAGCAATG -3'
|
Posted On |
2018-02-28 |